Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Characterization of the human factor VIII gene

1984 • 983 citations

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1987 • 944 citations

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1993 • 787 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

[30] Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1987 • 491 citations

Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor.

1991 • 275 citations

Von Willebrand Disease: A Database of Point Mutations, Insertions, and Deletions

1993 • 215 citations

Synthetic factor VIII peptides with amino acid sequences contained within the C2 domain of factor VIII inhibit factor VIII binding to phosphatidylserine

1990 • 198 citations

A role for the C2 domain of factor VIII in binding to von Willebrand factor

1994 • 192 citations

Identification of a binding site for blood coagulation factor IXa on the light chain of human factor VIII.

1994 • 175 citations

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

1991 • 162 citations

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

1994 • 156 citations

Factor VIIIa A2 subunit residues 558-565 represent a factor IXa interactive site.

1994 • 150 citations

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

1991 • 137 citations

Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1993 • 123 citations

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

1988 • 114 citations

Specific membrane binding of factor VIII is mediated by O-phospho-L-serine, a moiety of phosphatidylserine

1993 • 94 citations

The molecular basis of α1-antichymotrypsin deficiency in a heterozygote with liver and lung disease

1993 • 94 citations

The human peripheral renzodiazepine receptor gene: Cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia

1993 • 88 citations

Mutations of factor VIII cleavage sites in hemophilia A

1988 • 87 citations

Identification of a Missense Mutation in the Factor VIII Gene of a Mild Hemophiliac

1986 • 83 citations

Phosphorylation of factor Va and factor VIIIa by activated platelets

1993 • 67 citations

Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

1993 • 58 citations

Hemophilia A due to mutations that create new N-glycosylation sites.

1992 • 50 citations

A past mutation at Isoleucine³⁹⁷ is now a common cause of moderate/mild haemophilia B

1990 • 33 citations

Characterization of genetic defects of hemophilia a in patients of chinese origin

1993 • 31 citations

Mutations in haemophilia A

1993 • 26 citations

Amino acid substitutions in conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe hemophilia A

1992 • 25 citations

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)

1992 • 22 citations

Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain

1991 • 15 citations

Mutational analysis: new mutations

1995 • 8 citations

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis

1992 • 7 citations

[36] Computer programs for analyzing DNA and protein sequences

1987 • 3 citations